Varaico: Literature-Extracted Genetic Variants

CFTR

9,737 papers

RefSeq Summary

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and co...

Pfam Domains

ABC_membraneaa 81–350UCSCABC transporter transmembrane region

ABC_tranaa 441–576UCSCABC transporter

CFTR_Raa 639–849UCSCCystic fibrosis TM conductance regulator (CFTR), regulator domain

ABC_membraneaa 862–1147UCSCABC transporter transmembrane region

ABC_tranaa 1227–1374UCSCABC transporter

Gene Aliases

HGNC Name

CF transmembrane conductance regulator

HGNC Previous Symbols

CF; ABCC7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000492.4

p.K1365fs

c.4093_4094fs

Surrounding Variants

1 paper

NM_000492.4

p.K1365delFs

c.4095delG

1 paper

NM_000492.4

p.K1365_I1366Fs

c.4094_4098delinsGATGAACCTCAGFs

1 paper

NM_000492.4

p.A1364A

c.4092G>A

1 paper

NM_000492.4

p.K1365delFs

c.4094delA

2 papers

NM_000492.4

p.K1365_I1366del2

c.4093_4097del6

18 papers

NM_000492.4

p.A1364V

c.4091C>T

1 paper

NM_000492.4

p.I1366_L1367insFs

c.4097_4101dup5

5 papers

NM_000492.4

p.I1366F

c.4096A>T

16 papers

NM_000492.4

p.I1366N

c.4097T>A

9 papers

NM_000492.4

p.I1366T

c.4097T>C

3 papers

NM_000492.4

p.A1364delFs

c.4090delG

3 papers

NM_000492.4

p.K1363Q

c.4087A>C